Leukoencephalopathy With Vanishing White Matter; Vwm

Description

Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

Clinical Features

Top most frequent phenotypes and symptoms related to Leukoencephalopathy With Vanishing White Matter; Vwm

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Spasticity
  • Cognitive impairment
  • Delayed speech and language development
  • Peripheral neuropathy
  • Hyperreflexia

And another 50 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Leukoencephalopathy With Vanishing White Matter; Vwm Is also known as cach, cle, childhood ataxia with central nervous system hypomyelinization, cree leukoencephalopathy, vanishing white matter leukodystrophy.

Researches and researchers

Doctors, researchs, and experts related to Leukoencephalopathy With Vanishing White Matter; Vwm extracted from public data.

Leukoencephalopathy With Vanishing White Matter; Vwm Experts map



Current Researchs and researchers

  • INNSBRUCK — Pr Frank EDENHOFER

    Investigator of research project

    • Institution/s:
      — Universität Innsbruck
    • Research area/topic::

      iNSC-WMD: Patient-Derived Glial Precursor Cell Therapy for Vanishing White Matter Disease - AT


  • CLERMONT-FERRAND — Dr Anne FOGLI

    Investigator of research project

    • Institution/s:
      — Centre Biomédical de Recherche et de Valorisation - INSERM U931 - CNRS UMR 6247, Faculté de médecine de Clermont-Ferrand
    • Research area/topic::

      Pathology of glial cells due to factor eIF2B mutations : molecular and physiopathological approaches, therapeutic development


  • TEL AVIV — Pr Orna ELROY-STEIN

    Investigator of research project

    • Institution/s:
      — George S. Wise Faculty of life sciences, University of Tel-Aviv
    • Research area/topic::

      Dissecting eIF2B-related glial cells pathophysiology using a Knock-In mouse model


  • GENOVA — Dr Federico ZARA

    Investigator of research project

    • Institution/s:
      — Dipartimento di Neuroscienze e Riabilitazione, IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • Research area/topic::

      Identification of genes involved in hypomyelinating white matter disorders


  • ROMA — Pr Enrico S. BERTINI

    Coordinator of expert centre - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Contact person of registry - Coordinator of multinational clinical trial - Director of laboratory

    • Institution/s:
      — Dipartimento di Neuroscienze e Neuroriabilitazione, IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
      — IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • Research area/topic::

      Identification of genes involved in hypomyelinating white matter disorders


  • AMSTERDAM — Pr M.S. [Marjo] VAN DER KNAAP

    Coordinator of expert centre - Responsible for diagnostic tests - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Amsterdam UMC, locatie VUmc
      — Afdeling Klinische Genetica, Amsterdam UMC, locatie VUmc
      — Afdeling Klinische Genetica, Amsterdam UMC, locatie VUmc
    • Research area/topic::

      iNSC-WMD: Patient-Derived Glial Precursor Cell Therapy for Vanishing White Matter Disease



Mendelian

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Leukoencephalopathy With Vanishing White Matter; Vwm Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EIF2B3 DNA Sequencing Test.

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Genes
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Leukoencephalopathy with Vanishing White Matter Evaluation.

By Athena Diagnostics Inc (United States).

EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
Specificity
100 %
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Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

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Specificity
2 %
Genes
100 %
EIF2B3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

EIF2B3
Specificity
100 %
Genes
20 %
EIF2B3-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter.

By Center for Childhood White Matter Disorders Vrije Universiteit Medical Center (Netherlands).

EIF2B3
Specificity
100 %
Genes
20 %
Leukoencephalopathy with vanishing white matter (sequence analysis of EIF2B3 gene).

By CGC Genetics (Portugal).

EIF2B3
Specificity
100 %
Genes
20 %
Leukoencephalopathy with vanishing white matter (NGS panel for 5 genes).

By CGC Genetics (Portugal).

EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
Specificity
100 %
Genes
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Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
Specificity
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Genes
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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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